Literature DB >> 30628428

Next-Generation Sequencing to Diagnose Suspected Genetic Disorders.

Kay W Choy1.   

Abstract

Entities:  

Mesh：

Year:  2019        PMID： 30628428     DOI： 10.1056/NEJMc1814955

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


× No keyword cloud information.
  2 in total

1.  Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report.

Authors:  Xiaojing Li; Bingwei Peng; Chi Hou; Jinliang Li; Yiru Zeng; Wenxiao Wu; Yinting Liao; Yang Tian; Wen-Xiong Chen
Journal:  BMC Med Genet       Date:  2020-11-05       Impact factor: 2.103

Review 2.  RUNX2-modifying enzymes: therapeutic targets for bone diseases.

Authors:  Woo-Jin Kim; Hye-Lim Shin; Bong-Soo Kim; Hyun-Jung Kim; Hyun-Mo Ryoo
Journal:  Exp Mol Med       Date:  2020-08-13       Impact factor: 8.718
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.